普里米酮
家族史
医学
体格检查
核型
特纳综合征
儿科
心理学
遗传咨询
染色体
精神科
癫痫
遗传学
内科学
生物
苯妥英钠
基因
作者
Juan Alcalá Torres,Sara Llamas‐Velasco,Carlos Santos Martín,Antonio Guerrero
标识
DOI:10.1080/00207454.2024.2313009
摘要
Tremor can be caused by various conditions, and aneuploidies might often be overlooked as a cause. They should be considered in young patients with concrete phenotypes and negative familiar history of tremors. Karyotyping is a cost-effective diagnostic tool crucial for genetic counselling. Common treatments for tremors often yield unsatisfactory results in these cases.
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